中山昌喜の業績一覧

＜尿酸関連＞

・論文

  1. C. Domenighetti, PE. Sugier, AAK. Sreelatha, C. Schulte, S. Grover, O. Mohamed, B. Portugal, P. May, DR. Bobbili, M. Radivojkov-Blagojevic, P. Lichtner, AB. Singleton, DG. Hernandez, C. Edsall, GD. Mellick, A. Zimprich, W. Pirker, E. Rogaeva, AE. Lang, S. Koks, P. Taba, S. Lesage, A. Brice, JC. Corvol, MC. Chartier-Harlin, E. Mutez, K. Brockmann, AB. Deutschländer, GM. Hadjigeorgiou, E. Dardiotis, L. Stefanis, AM. Simits, EM. Valente, S. Petrucci, S. Duga, L. Straniero, A. Zecchinelli, G. Pezzoli, L. Brighina, C. Ferrarese, G. Annesi, A. Quattrone, M. Gagliardi, H. Matsuo, Y. Kawamura, N. Hattori, K. Nishioka, SJ. Chung, YJ. Kim, P. Kolber, BP. van de Warrenburg, BR. Bloem, J. Aasly, M. Toft, L. Pihlstrøm, LC Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, M. Ezquerra, P. Pastor, M. Diez-Fairen, K. Wirdefeldt, NL. Pedersen, C. Ran, AC. Belin, A. Puschmann, C. Hellberg, CE. Clarke, KE. Morrison, M. Tan, D. Krainc, LF. Burbulla, MJ. Farrer, R. Krüger, T. Gasser, M. Sharma, A. Elbaz; Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (Courage-PD) consortium. Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease. J Parkinsons Dis. (2021).

  2. Y. Kawamura, A. Nakayama, S. Shimizu, Y. Toyoda, Y. Nishida, A. Hishida, S. Katsuura-Kamano, K. Shibuya, T. Tamura, M. Kawaguchi, S. Suzuki, S. Iwasawa, H. Nakashima, R. Ibusuki, H. Uemura, M. Hara, K. Takeuchi, T. Takada, M. Tsunoda, K. Arisawa, T. Takezaki, K. Tanaka, K. Ichida, K. Wakai, N. Shinomiya, H. Matsuo. A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals. Biomedicines.; 9(8):1012, (2021).

  3. A. Nakayama, Y. Kawamura, Y. Toyoda, S. Shimizu, M. Kawaguchi, Y. Aoki, K. Takeuchi, R. Okada, Y. Kubo, T. Imakiire, S. Iwasawa, H. Nakashima, M. Tsunoda, K. Ito, H. Kumagai, T. Takada, K. Ichida, N. Shinomiya, H. Matsuo. Genetic-epidemiological analysis of hypouricemia from 4,993 Japanese on nonfunctional variants of URAT1/SLC22A12 gene. Rheumatology (Oxford). (2021).

  4. M. Sakiyama, H. Matsuo, Y. Toyoda, Y. Yonekura, T. Ishikawa, A. Nakayama, T. Higashino, Y. Kawamura, N. Fujimoto, N. Shinomiya, T. Satoh. Porphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity. Hum Cell. 34(4):1082-1086, (2021).

  5. Y. Toyoda, Y. Kawamura, A. Nakayama, H. Nakaoka, T. Higashino, S. Shimizu, H. Ooyama, K. Morimoto, N. Uchida, R. Shigesawa, K. Takeuchi, I. Inoue, K. Ichida, H. Suzuki, N. Shinomiya, T. Takada, H. Matsuo. Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12. Rheumatology (Oxford). (2021).

  6. M. Nakatochi, Y. Toyoda, M. Kanai, A. Nakayama, Y. Kawamura, A. Hishida, H. Mikami, K. Matsuo, T. Takezaki, Y. Momozawa, Project TBJ, Y. Kamatani, S. Ichihara, N. Shinomiya, M. Yokota, K. Wakai, Y. Okada, H. Matsuo; Japan Uric Acid Genomics Consortium (Japan Urate). An X chromosome-wide meta-analysis based on Japanese cohorts revealed that non-autosomal variations are associated with serum urate. Rheumatology (Oxford). (2021).

  7. M. Ogura, Y. Toyoda, M. Sakiyama, Y. Kawamura, A. Nakayama, Y. Yamanashi, T. Takada, S. Shimizu, T. Higashino, M. Nakajima, M. Naito, A. Hishida, S. Kawai, R. Okada, M. Sasaki, M. Ayaori, H. Suzuki, K. Takata, K. Ikewaki, M. Harada-Shiba, N. Shinomiya, H. Matsuo. Increase of serum uric acid levels associated with APOE ε2 haplotype: a clinico-genetic investigation and in vivo approach. Hum Cell. 34(6):1727-1733, (2021)

  8. M. Kawaguchi, A. Nakayama, Y. Aoyagi, T. Nakamura, S. Shimizu, Y. Kawamura, M. Takao, T. Tamura, A. Hishida, M. Nagayoshi, M. Nagase, K. Ooyama, H. Ooyama, N. Shinomiya, H. Matsuo. Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population. Hum Cell. (2021).

  9. Y. Toyoda, T. Takada, H. Miyata, H. Matsuo, H. Kassai, K Nakao, M. Nakatochi, Y. Kawamura, S. Shimizu, N. Shinomiya, K. Ichida, M. Hosoyamada, A. Aiba, H. Suzuki. Identification of GLUT12/SLC2A12 as a urate transporter that regulates the blood urate level in hyperuricemia model mice. Proc Natl Acad Sci U S A. 117(31):18175-18177 (2020).

  10. M. Kawaguchi, A. Nakayama, Y. Aoyagi, T. Nakamura, S. Shimizu, Y. Kawamura, M. Takao, T. Tamura, A. Hishida, M. Nagayoshi, M. Nagase, K. Ooyama, H. Ooyama, N. Shinomiya, H. Matsuo. Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population. Hum Cell. (2021). online ahead of print.

  11. Y. Toyoda, T. Takada, H. Miyata, H. Matsuo, H. Kassai, K Nakao, M. Nakatochi, Y. Kawamura, S. Shimizu, N. Shinomiya, K. Ichida, M. Hosoyamada, A. Aiba, H. Suzuki. Identification of GLUT12/SLC2A12 as a urate transporter that regulates the blood urate level in hyperuricemia model mice. Proc Natl Acad Sci U S A. 117(31):18175-18177 (2020).

  12. Y. Kawamura, Y. Toyoda, T. Ohnishi, R. Hisatomi, T. Higashino, A. Nakayama, S. Shimizu, M. Yanagi, I. Kamimaki, R. Fujimaru, H. Suzuki, N. Shinomiya, T. Takada, H. Matsuo. Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families. Rheumatology (Oxford), 59(12):3988-3990 (2020).

  13. A. Nakayama, M. Nakatochi, Y. Kawamura, K. Yamamoto, H. Nakaoka, S. Shimizu, T. Higashino, T. Koyama, A. Hishida, K. Kuriki, M. Watanabe, T. Shimizu, K. Ooyama, H. Ooyama, M. Nagase, Y. Hidaka, D. Matsui, T. Tamura, T. Nishiyama, C. Shimanoe, S. Katsuura-Kamano, N. Takashima, Y. Shirai, M. Kawaguchi, M. Takao, R. Sugiyama, Y. Takada, T. Nakamura, H. Nakashima, M. Tsunoda, I. Danjoh, A. Hozawa, K. Hosomichi, Y. Toyoda, Y. Kubota, T. Takada, H. Suzuki, Blanka Stiburkova, T. J. Major, T. R. Merriman, N. Kuriyama, H. Mikami, T. Takezaki, K. Matsuo, S. Suzuki, T. Hosoya, Y. Kamatani, M. Kubo, K. Ichida, K. Wakai, I. Inoue, Y. Okada, N. Shinomiya, H. Matsuo on behalf of Japan Gout Genomics Consortium (Japan Gout). Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients. Ann. Rheum. Dis. 79:657-665 (2020). (epub ahead of print on Apr. 1, 2020).

  14. A. Akashi, A. Nakayama, Y. Kamatani, T. Higashino, S. Shimizu, Y. Kawamura, M. Imoto, M. Naito, A. Hishida, M. Kawaguchi, M. Takao, M. Matsuo, T. Takada, K. Ichida, H. Ooyama, N. Shinomiya, H. Matsuo, A common variant of LDL receptor related protein 2 (LRP2) gene is associated with gout susceptibility: a meta-analysis in a Japanese population. Hum Cell 33, 303-307 (2020).

  15. T. Higashino, K. Morimoto, H. Nakaoka, Y. Toyoda, Y. Kawamura, S. Shimizu, T. Nakamura, K. Hosomichi, A. Nakayama, K. Ooyama, H. Ooyama, T. Shimizu, M. Ueno, T. Ito, T. Tamura, M. Naito, H. Nakashima, M. Kawaguchi, M. Takao, Y. Kawai, N. Osada, K. Ichida, K. Yamamoto, H. Suzuki, N. Shinomiya, I. Inoue, T. Takada, H. Matsuo, Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels. Ann. Rheum. Dis. 79, 164-166 (2020) (epub ahead of print on Nov 28, 2019.).

  16. A. Nakayama, H. Matsuo, A. Ohtahara, K. Ogino, M. Hakoda, T. Hamada, M. Hosoyamada, S. Yamaguchi, I. Hisatome, K. Ichida, N. Shinomiya, Clinical practice guideline for renal hypouricemia (1st edition). Hum Cell 32, 83-87 (2019).

  17. Y. Kawamura, H. Nakaoka, A. Nakayama, Y. Okada, K. Yamamoto, T. Higashino, M. Sakiyama, T. Shimizu, H. Ooyama, K. Ooyama, M. Nagase, Y. Hidaka, Y. Shirahama, K. Hosomichi, Y. Nishida, I. Shimoshikiryo, A. Hishida, S. Katsuura-Kamano, S. Shimizu, M. Kawaguchi, H. Uemura, R. Ibusuki, M. Hara, M. Naito, M. Takao, M. Nakajima, S. Iwasawa, H. Nakashima, K. Ohnaka, T. Nakamura, B. Stiburkova, T. R. Merriman, M. Nakatochi, S. Ichihara, M. Yokota, T. Takada, T. Saitoh, Y. Kamatani, A. Takahashi, K. Arisawa, T. Takezaki, K. Tanaka, K. Wakai, M. Kubo, T. Hosoya, K. Ichida, I. Inoue, N. Shinomiya, H. Matsuo. Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout. Ann. Rheum. Dis. 78, 1430-1437 (2019) (epub ahead of print on Jul. 8, 2019).

  18. M. Nakatochi, M. Kanai, A. Nakayama, A. Hishida, Y. Kawamura, S. Ichihara, M. Akiyama, H. Ikezaki, N. Furusyo, S. Shimizu, K. Yamamoto, M. Hirata, R. Okada, S. Kawai, M. Kawaguchi, Y. Nishida, C. Shimanoe, R. Ibusuki, T. Takezaki, M. Nakajima, M. Takao, E. Ozaki, D. Matsui, T. Nishiyama, S. Suzuki, N. Takashima, Y. Kita, K. Endoh, K. Kuriki, H. Uemura, K. Arisawa, I. Oze, K. Matsuo, Y. Nakamura, H. Mikami, T. Tamura, H. Nakashima, T. Nakamura, N. Kato, K. Matsuda, Y. Murakami, T. Matsubara, M. Naito, M. Kubo, Y. Kamatani, N. Shinomiya, M. Yokota, K. Wakai, Y. Okada, H. Matsuo. Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals. Commun. Biol. 2. 115 (2019).

  19. 中山昌喜, 松尾洋孝, 太田原顕, 荻野和秀, 箱田雅之, 浜田紀宏, 細山田真, 山口聡, 久留一郎, 市田公美, 四ノ宮成祥. 「腎性低尿酸血症診療ガイドライン」（第１版）の策定. 痛風と核酸代謝. 41(1) (2018).

  20. M. Sakiyama, H. Matsuo, A. Akashi, S. Shimizu, T. Higashino, M. Kawaguchi, A. Nakayama, M. Naito, S. Kawai, H. Nakashima, Y. Sakurai, K. Ichida, T. Shimizu, H. Ooyama, N. Shinomiya. Independent effects of ADH1B and ALDH2 common dysfunctional variants on gout. Sci Rep. 7. 2500 (2017).

  21. H. Matsuo, T. Tsunoda, K. Ooyama, M. Sakiyama, T. Sogo, T. Takada, A. Nakashima, A. Nakayama, M. Kawaguchi, T. Higashino, K. Wakai , H. Ooyama, R. Hokari, H. Suzuki, K. Ichida, A.Inui, S. Fujimori, N. Shinomiya.　Hyperuricemia in acute gastroenteritis is caused by decreased urate excretion via ABCG2.　Sci. Rep. 6, 31003 (2016).

  22. M. Sakiyama, H. Matsuo, H. Nakaoka, K. Yamamoto, A. Nakayama, T. Nakamura, S. Kawai, R. Okada, H. Ooyama, T. Shimizu, N. Shinomiya. Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus. Sci. Rep. 6, 25360 (2016).

  23. M. Sakiyama, H. Mastuo, S. Shimizu, H. Nakashima, T. Nakamura, A. Nakayama, T. Higashino, M. Naito, S. Suma, A. Hishida, T. Satoh, Y. Skurai, T. Takada, K. Ichida, H. Ooyama, T. Shimizu, N. Shinomiya, The effects of URAT1/SLC22A12 nonfunctional variants, R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression. Sci. Rep. 6, 20148 (2016).

  24. H. Yokokawa, H. Fukuda, A. Suzuki, K. Fujibayashi, T. Naito, Y. Uehara, A. Nakayama, H. Matsuo, H. Sanada, P. A. Jose, Y. Miwa, T. Hisaoka, H. Isonuma, Association Between Serum Uric Acid Levels/Hyperuricemia and Hypertension Among 85,286 Japanese Workers. J Clin Hypertens (Greenwich) 18, 53-59 (2016).

  25. H. Matsuo, K. Yamamoto, H. Nakaoka, A. Nakayama, M. Sakiyama, T. Chiba, A. Takahashi, T. Nakamura, H. Nakashima, Y. Takada, I. Danjoh, S. Shimizu, J. Abe, Y. Kawamura, S. Terashige, H. Ogata, S. Tatsukawa, G. Yin, R. Okada, E. Morita, M. Naito, A. Tokumasu, H. Onoue, K. Iwaya, T. Ito, T. Takada, K. Inoue, Y. Kato, Y. Nakamura, Y. Sakurai, H. Suzuki, Y. Kanai, T. Hosoya, N. Hamajima, I. Inoue, M. Kubo, K. Ichida, H. Ooyama, T. Shimizu, N. Shinomiya, Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes. Ann Rheum Dis, 75, 652-659 (2016). (epub ahead of print, on Feb 2, 2015).

  26. H. Matsuo, H. Tomiyama, W. Satake, T. Chiba, H. Onoue, Y. Kawamura, A. Nakayama, S. Shimizu, M. Sakiyama, M. Funayama, K. Nishioka, T. Shimizu, K. Kaida, K. Kamakura, T. Toda, N. Hattori, N. Shinomiya, ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout. Ann. Clin. Transl. Neurol. 2, 302-306 (2015).

  27. T. Chiba, H. Matsuo, M. Sakiyama, A. Nakayama, S. Shimizu, K. Wakai, S. Suma, H. Nakashima, Y. Sakurai, T. Shimizu, K. Ichida, N. Shinomiya, Common variant of ALPK1 is not associated with gout: a replication study. Hum Cell 28, 1-4 (2015).

  28. T. Chiba, H. Matsuo, Y. Kawamura, S. Nagamori, T. Nishiyama, L. Wei, A. Nakayama, T. Nakamura, M. Sakiyama, T. Takada, Y. Taketani, S. Suma, M. Naito, T. Oda, H. Kumagai, Y. Moriyama, K. Ichida, T. Shimizu, Y. Kanai, N. Shinomiya, NPT1/SLC17A1 Is a Renal Urate Exporter in Humans and Its Common Gain-of-Function Variant Decreases the Risk of Renal Underexcretion Gout. Arthritis Rheumatol 67, 281-287 (2015).

  29. M. Taniguchi, H. Matsuo, S. Shimizu, A. Nakayama, K. Suzuki, N. Hamajima, N. Shinomiya, S. Nishio, S. Kosugi, S. Usami, J. Ito, S. Kitajiri, Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population. J. Hum. Genet. 60, 613-617 (2015).

  30. 高田雄三, 松村耕治, 松尾洋孝, 中山昌喜, 清水聖子, 崎山真幸, 千葉俊周, 四ノ宮成祥, 中島宏, 櫻井裕, 清水徹, 宮平靖, 痛風・高尿酸血症のリスク評価のための迅速遺伝子検査. DNA多型 22, 151-154 (2014).

  31. Y. Takada, H. Matsuo, A. Nakayama, M. Sakiyama, A. Hishida, R. Okada, Y. Sakurai, T. Shimizu, K. Ichida, N. Shinomiya, Common variant of PDZK1, adaptor protein gene of urate transporters, is not associated with gout. J Rheumatol 41, 2330-2331 (2014).

  32. T. Takada, K. Ichida, H. Matsuo, A. Nakayama, K. Murakami, Y. Yamanashi, H. Kasuga, N. Shinomiya, H. Suzuki, ABCG2 Dysfunction Increases Serum Uric Acid by Decreased Intestinal Urate Excretion. Nucleosides Nucleotides Nucleic Acids 33, 275-281 (2014).

  33. M. Sakiyama, H. Matsuo, Y. Takada, T. Nakamura, A. Nakayama, T. Takada, S. I. Kitajiri, K. Wakai, H. Suzuki, N. Shinomiya, Ethnic differences in ATP-binding cassette transporter, sub-family G, member 2 (ABCG2/BCRP): genotype combinations and estimated functions. Drug Metab Pharmacokinet. 29, 490-492 (2014).

  34. M. Sakiyama, H. Matsuo, S. Shimizu, H. Nakashima, A. Nakayama, T. Chiba, M. Naito, T. Takada, H. Suzuki, N. Hamajima, K. Ichida, T. Shimizu, N. Shinomiya, A common variant of organic anion transporter 4 (OAT4/SLC22A11) gene is associated with renal underexcretion type gout. Drug Metab Pharmacokinet 29, 208-210 (2014).

  35. M. Sakiyama, H. Matsuo, S. Shimizu, T. Chiba, A. Nakayama, Y. Takada, T. Nakamura, T. Takada, E. Morita, M. Naito, K. Wakai, H. Inoue, S. Tatsukawa, J. Sato, K. Shimono, T. Makino, T. Satoh, H. Suzuki, Y. Kanai, N. Hamajima, Y. Sakurai, K. Ichida, T. Shimizu, N. Shinomiya, A common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility. Hum Cell 27, 1-4 (2014).

  36. M. Sakiyama, H. Matsuo, T. Chiba, A. Nakayama, T. Nakamura, S. Shimizu, E. Morita, N. Fukuda, H. Nakashima, Y. Sakurai, K. Ichida, T. Shimizu, N. Shinomiya, Common Variants of cGKII/PRKG2 Are Not Associated with Gout Susceptibility. J Rheumatol 41, 1395-1397 (2014).

  37. A. Nakayama, H. Matsuo, T. Shimizu, Y. Takada, T. Nakamura, S. Shimizu, T. Chiba, M. Sakiyama, M. Naito, E. Morita, K. Ichida, N. Shinomiya, Common variants of a urate-associated gene LRP2 are not associated with gout susceptibility. Rheumatol Int 34, 473-476 (2014).

  38. A. Nakayama, H. Matsuo, H. Nakaoka, T. Nakamura, H. Nakashima, Y. Takada, Y. Oikawa, T. Takada, M. Sakiyama, S. Shimizu, Y. Kawamura, T. Chiba, J. Abe, K. Wakai, S. Kawai, R. Okada, T. Tamura, Y. Shichijo, A. Akashi, H. Suzuki, T. Hosoya, Y. Sakurai, K. Ichida, N. Shinomiya, Common dysfunctional variants of ABCG2 have stronger impact on hyperuricemia progression than typical environmental risk factors. Sci Rep 4, 5227 (2014).

  39. H. Matsuo, T. Takada, A. Nakayama, T. Shimizu, M. Sakiyama, S. Shimizu, T. Chiba, H. Nakashima, T. Nakamura, Y. Takada, Y. Sakurai, T. Hosoya, N. Shinomiya, K. Ichida, ABCG2 Dysfunction Increases the Risk of Renal Overload Hyperuricemia. Nucleosides Nucleotides Nucleic Acids 33, 266-274 (2014).

  40. H. Matsuo, A. Nakayama, M. Sakiyama, T. Chiba, S. Shimizu, Y. Kawamura, H. Nakashima, T. Nakamura, Y. Takada, Y. Oikawa, T. Takada, H. Nakaoka, J. Abe, H. Inoue, K. Wakai, S. Kawai, Y. Guang, H. Nakagawa, T. Ito, K. Niwa, K. Yamamoto, Y. Sakurai, H. Suzuki, T. Hosoya, K. Ichida, T. Shimizu, N. Shinomiya, ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload. Sci Rep 4, 3755 (2014).

  41. T. Chiba, H. Matsuo, S. Nagamori, A. Nakayama, Y. Kawamura, S. Shimizu, M. Sakiyama, M. Hosoyamada, S. Kawai, R. Okada, N. Hamajima, Y. Kanai, N. Shinomiya, Identification of a Hypouricemia Patient with SLC2A9 R380W, A Pathogenic Mutation for Renal Hypouricemia Type 2. Nucleosides Nucleotides Nucleic Acids 33, 261-265 (2014).

  42. 高田雄三, 松村耕治, 小林靖, 松尾洋孝, 中山昌喜, 四ノ宮成祥, 中島宏, 櫻井裕, 鈴木康司, 濱嶋信之, 全自動SNPタイピング装置を利用した痛風の遺伝子タイピング. DNA多型 21, 256-260 (2013).

  43. Y. Takada, H. Matsuo, M. Sakiyama, A. Nakayama, A. Fujii, S. Shimizu, T. Chiba, H. Ogata, H. Nakashima, K. Matsumura, K. Suzuki, N. Hamajima, K. Niwa, S. Suzuki, S. Uchino, Y. Sakurai, Y. Kobayashi, N. Shinomiya, ABCG2 SNP typing using HRM assay : Effective approach for gout and hyperuricemia risk evaluation. Journal of Clinical Welfare 10, 64-69 (2013).

  44. A. Nakayama, H. Matsuo, T. Shimizu, H. Ogata, Y. Takada, H. Nakashima, T. Nakamura, S. Shimizu, T. Chiba, M. Sakiyama, C. Ushiyama, T. Takada, K. Inoue, S. Kawai, A. Hishida, K. Wakai, N. Hamajima, K. Ichida, Y. Sakurai, Y. Kato, N. Shinomiya, A common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility. Hum Cell 26, 133-136 (2013).

  45. H. Matsuo, K. Ichida, T. Takada, A. Nakayama, H. Nakashima, T. Nakamura, Y. Kawamura, Y. Takada, K. Yamamoto, H. Inoue, Y. Oikawa, M. Naito, A. Hishida, K. Wakai, C. Okada, S. Shimizu, M. Sakiyama, T. Chiba, H. Ogata, K. Niwa, M. Hosoyamada, A. Mori, N. Hamajima, H. Suzuki, Y. Kanai, Y. Sakurai, T. Hosoya, T. Shimizu, N. Shinomiya, Common dysfunctional variants in ABCG2 are a major cause of early-onset gout. Sci Rep 3, 2014 (2013).

  46. 高田雄三, 松村耕治, 松尾洋孝, 井上寛規, 中山昌喜, 四ノ宮成祥, 藤井安宇美, 丹羽和紀, 鈴木康司, 濱嶋信之, 小林靖, High Resolution Melting法によるABCG2遺伝子のSNPタイピング. DNA多型 20, 286-290 (2012).

  47. K. Ichida, H. Matsuo, T. Takada, A. Nakayama, K. Murakami, T. Shimizu, Y. Yamanashi, H. Kasuga, H. Nakashima, T. Nakamura, Y. Takada, Y. Kawamura, H. Inoue, C. Okada, Y. Utsumi, Y. Ikebuchi, K. Ito, M. Nakamura, Y. Shinohara, M. Hosoyamada, Y. Sakurai, N. Shinomiya, T. Hosoya, H. Suzuki, Decreased extra-renal urate excretion is a common cause of hyperuricemia. Nat Commun 3, 764 (2012).

  48. A. Nakayama, H. Matsuo, T. Takada, K. Ichida, T. Nakamura, Y. Ikebuchi, K. Ito, T. Hosoya, Y. Kanai, H. Suzuki, N. Shinomiya, ABCG2 is a high-capacity urate transporter and its genetic impairment increases serum uric acid levels in humans. Nucleosides Nucleotides Nucleic Acids 30, 1091-1097 (2011).

  49. H. Matsuo, T. Takada, K. Ichida, T. Nakamura, A. Nakayama, Y. Takada, C. Okada, Y. Sakurai, T. Hosoya, Y. Kanai, H. Suzuki, N. Shinomiya, Identification of ABCG2 Dysfunction as a Major Factor Contributing to Gout. Nucleosides Nucleotides Nucleic Acids 30, 1098-1104 (2011).

  50. H. Matsuo, T. Takada, K. Ichida, T. Nakamura, A. Nakayama, H. Suzuki, T. Hosoya, N. Shinomiya, ABCG2/BCRP Dysfunction as a Major Cause of Gout. Nucleosides Nucleotides Nucleic Acids 30, 1117-1128 (2011).

  51. Y. Kawamura, H. Matsuo, T. Chiba, S. Nagamori, A. Nakayama, H. Inoue, Y. Utsumi, T. Oda, J. Nishiyama, Y. Kanai, N. Shinomiya, Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2). Nucleosides Nucleotides Nucleic Acids 30, 1105-1111 (2011).

  52. H. Matsuo, T. Takada, K. Ichida, T. Nakamura, A. Nakayama, Y. Ikebuchi, K. Ito, Y. Kusanagi, T. Chiba, S. Tadokoro, Y. Takada, Y. Oikawa, H. Inoue, K. Suzuki, R. Okada, J. Nishiyama, H. Domoto, S. Watanabe, M. Fujita, Y. Morimoto, M. Naito, K. Nishio, A. Hishida, K. Wakai, Y. Asai, K. Niwa, K. Kamakura, S. Nonoyama, Y. Sakurai, T. Hosoya, Y. Kanai, H. Suzuki, N. Hamajima, N. Shinomiya, Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population. Sci Transl Med 1, 5ra11 (2009).

  53. H. Matsuo, T. Chiba, S. Nagamori, A. Nakayama, H. Domoto, K. Phetdee, P. Wiriyasermkul, Y. Kikuchi, T. Oda, J. Nishiyama, T. Nakamura, Y. Morimoto, K. Kamakura, Y. Sakurai, S. Nonoyama, Y. Kanai, N. Shinomiya, Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet 83, 744-751 (2008).

・著書

  1. 中山昌喜, 中嶌真由子, 松尾洋孝, 腎性低尿酸血症のアスリートに対する患者教育. 高尿酸血症と痛風. 27, 2 (2019).

  2. 中山昌喜, 松尾洋孝, 四ノ宮成祥, 尿酸値は低くても問題：日本人に多い「腎性低尿酸血症」とは？ Medical Technology. 46(4), 302-303 (2018).

  3. 中山昌喜, 松尾洋孝, 四ノ宮成祥, 腎性低尿酸血症診療ガイドライン. 日本臨床. 75(12), 1930-1935 (2017).

  4. 中山昌喜, 四ノ宮成祥, 腎性低尿酸血症診療ガイドライン. 日本臨床. 75(12), 1930-1935 (2017).

  5. 中山昌喜, 松尾洋孝, 薬物酸トランスポーターを標的とする新規薬物の可能性. Modern Physician. 36(3), 248-253 (2016).

  6. 中山昌喜, 松尾洋孝, 四ノ宮成祥, 尿酸異常症の遺伝子発見から腎性低尿酸血症診療ガイドライン策定まで. 尿酸と血糖. 2(1), 43-46 (2016).

  7. 中山昌喜, 松尾洋孝, ABCG2遺伝子変異という遺伝要因は環境要因よりも影響力が大きい. 高尿酸血症と痛風 23, 94 (2015).

  8. 中山昌喜, 松尾洋孝, 市田公美, 腎性低尿酸血症とその原因、対策. 最新医学 別冊 高尿酸血症・痛風　診断と治療のABCシリーズ 105, 99-106 (2015).

  9. 中山昌喜, 松尾洋孝, 高田龍平, 市田公美, 四ノ宮成祥, 【日本が貢献した世界的新知見】 ABCG2と高尿酸血症. 高尿酸血症と痛風 21, 43-48 (2013).

  10. 中山昌喜, 松尾洋孝, 市田公美, 四ノ宮成祥, 【腎疾患治療マニュアル2012-13】 尿細管疾患　尿細管機能異常症　腎性低尿酸血症. 腎と透析 72, 370-373 (2012).

  11. 千葉俊周, 松尾洋孝, 中山昌喜, 市田公美, 四ノ宮成祥, XV 膜輸送系の異常 遺伝性腎性低尿酸血症. 別冊 日本臨床 (日本臨床社, 大阪, ed. 2, 2012), vol. 新領域別症候群シリーズ 20, pp. 807-811.

  12. 松尾洋孝, 市田公美, 高田龍平, 中山昌喜, 四ノ宮成祥, 尿酸動態の支配要因としての尿酸トランスポーター. 細胞工学 31, 553-557 (2012).

  13. 中山昌喜, 松尾洋孝, 四ノ宮成祥, 痛風の遺伝子. リウマチ科 44, 689-694 (2010).

  14. 中山昌喜, 松尾洋孝, 四ノ宮成祥, 【痛風診療最前線】 発症原因　遺伝要因. Modern Physician 30, 1385-1388 (2010).

＜防衛医学関連・その他＞

・論文

  1. 中山昌喜, 医務室での使用に適した医療費計算ファイルの開発. 防衛衛生 66(7・8)別冊, 1-7 (2019).

  2. 中山昌喜, 藤田真敬, 妻鳥元太郎, 立花正一, ヘリによる硫黄島への急患搬送の実際―自験例における教訓と工夫について―. 防衛衛生 61, 156-162 (2014).

  3. 中山昌喜, 四ノ宮成祥, 妻鳥元太郎, 藤田真敬, 徳野慎一, 酒井正雄, 福島功二, 国外訓練におけるインフルエンザ集団発生の診療経験と対策. 防衛衛生 60, 145-152 (2013).

  4. S. Watanabe, H. Matsuo, Y. Kobayashi, Y. Satoh, M. Fujita, A. Nakayama, Y. Aizawa, N. Shinomiya, S. Suzuki, Transient degradation of myelin basic protein in the rat hippocampus following acute carbon monoxide poisoning. Neurosci Res 68, 232-240 (2010).

  5. 森康貴, 中山昌喜, 岡崎智子, 辻本由希子, 福島功二, 過去29年間における医学適性審査の変遷と現状における考察. 防衛衛生 57, 195-204 (2010).

  6. K. Takada, K. Suzuki, M. Matsumoto, M. Okada, T. Nakanishi, H. Horikoshi, T. Higuchi, A. Nakayama, F. Ohsuzu, The relationships between titers of anti-Ro or anti-La as measured by ELISA and salivary production rate with age correction. Mod Rheumatol 18, 578-584 (2008).

  7. 中山昌喜, 本郷悠, 汐崎祐, 田邊肇, 小川剛, 望月仁志, 荒木学, 海田賢一, 徳丸阿耶, 元吉和夫, 鎌倉惠子, SLE関連脊髄炎の2例. 運動障害 18, 15-21 (2008).

  8. 武田湖太郎, 徳永元秀, 石嶺久子, 中山昌喜, 森浩一, 松尾洋孝, 福田潤, 神経突起長計測ソフトウェアの開発. 防衛医科大学校雑誌 31, 93-102 (2006).

・著書

  1. 中山昌喜, 藤田真敬, 妻鳥元太郎, 立花正一, 第3章第3節　離島での患者空輸 『より効率的で安全な患者搬送を目指して』, 立花正一 編. (所沢, 2015), pp. 70-81.

  2. 中山昌喜, 四ノ宮成祥, 第3章第3節　新型インフルエンザの診断法とその問題点 『インフルエンザとの戦い　－良く知って対応する－』, 四ノ宮成祥, 加來浩器, 川名明彦 編. (太陽美術, 所沢, 2011), pp. 85-90.

  3. 中山昌喜, 四ノ宮成祥, 第3章第2節　新型インフルエンザウイルスの特徴 『インフルエンザとの戦い　－良く知って対応する－』, 四ノ宮成祥, 加來浩器, 川名明彦 編s. (太陽美術, 所沢, 2011), pp. 80-84.